Name(s): __________________________________________________________ Per. ________
The Genetic Counselor
You have been asked to take on the role of assistant to a genetic counselor. You have been asked to create an
informational pamphlet or a brochure, which illustrates a particular genetic disorder resulting from a chromosomal
abnormality that may be detected through genetic testing. In order to complete this task, you will first need to
research the disorder, and then create a brochure to be used in a genetic counseling center. This brochure will be
given to prospective parents to help explain about specific disorders caused by chromosomal abnormalities that
have been displayed by the mother’s karyotype.
You may use the web resources to find the information that you will need. You may also visit any search engine and
type in the chromosomal disorder for your brochure research. There are many sites for most of the genetic
disorders.
You can choose from the following disorders:
Achondroplasia Fabry’s Disease
Achromatopsia Fragile X Syndrome
Aicardi Syndrome Friedreich’s Ataxia
Alpha-1 Antitrypsin Deficiency Hemophilia
Angelman Syndrome Huntington’s Disease
Canavan Disease Klinefelter’s Syndrome
Cri Du Chat Syndrome Kostmann’s Syndrome
Cystic Fibrosis Marfan Syndrome
Cystinuria Moebius Syndrome
Diabetes Nail Patella Syndrome
Downs Syndrome Narcolepsy
Duchenne Muscular Dystrophy Neurofibromatosis
Prader-Willi Syndrome Tay-Sachs Disease
Progeria Thrombocytopenia Absent Radius Syndrome
Proteus (TAR)
Retinoblastoma Tourette’s Syndrome
Rett Syndrome Trisomy
Sickle Cell Turner’s Syndrome
Sturge-Weber Syndrome Waardenburg Syndrome
Tay-Sachs Disease Wilson’s Disease
Once you have completed your research, make a pamphlet (brochure) or a poster presenting this information,
keeping in mind that your audience will be prospective parents who need to know about your disorder because it
may affect their baby and that they probably have never heard of this disorder before.
You may create your project using construction paper and art supplies, or you may use desktop publishing software
such as Microsoft Publisher, Print Shop, or any other available software. Include pictures, graphs or charts to help
explain your information.
The following must be included in your project:
What are the scientific and common names for this disorder?
Who discovered it and when? (How did the disease/syndrome get its name?)
How is this disorder inherited? (What gene or chromosome is it on?)
What are the symptoms of the disorder? (How does this disease affect the body? What are some of the
effects?)
What are the current treatments for this disorder?
How common is this disorder? (How many people have it?)
Is there help available for families with this disorder?
How is it diagnosed?
Who should have the test done? (What gender or race does it tend to affect?)
What is the procedure for the test?
What exactly do the test results mean? Does the test indicate probabilities or certainties of having
offspring with this disorder?
Why is this disorder considered a genetic disorder?
RUBRIC:
Information
Cover/Title with some graphic and name of disorder 10
General description of the disorder 10
Frequency of occurrence 10
Possible causes of the disorder 10
Signs/Symptoms of the person exhibiting the disorder 10
Possible web sites or groups to help parents with children who have the disorder 10
Illustrated karyotype/affected chromosome for the person with the disorder 10
Layout
Information is organized (bulleted) in an understandable manner 10
Creativity & Color 10
Pictures 10
Total 100
Write your name(s) on this rubric sheet and attach it to your project when handing in your assignment.